ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.2638G>A (p.Gly880Ser) (rs794728194)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556229 SCV000627860 pathogenic Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 2018-06-08 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 880 of the FBN1 protein (p.Gly880Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is not present in population databases (rs794728194, ExAC no frequency). This variant has been reported in several individuals affected with Marfan syndrome (PMID: 12402346, 15821637, 18435798, 22772377). ClinVar contains an entry for this variant (Variation ID: 200000). Experimental studies have shown that this missense change has a deleterious effect on the structure of the FBN1 protein (PMID: 16905551). For these reasons, this variant has been classified as Pathogenic.
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769644 SCV000901045 pathogenic Thoracic aortic aneurysm and aortic dissection 2016-03-08 criteria provided, single submitter clinical testing
Center for Medical Genetics Ghent,University of Ghent RCV000663561 SCV000786872 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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